Variant report

Variant	rs72647914
Chromosome Location	chr8:48820956-48820957
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48820342..48823046-chr8:48823187..48826342,3	K562	blood:
2	chr8:48819941..48822158-chr8:48823187..48826621,4	K562	blood:
3	chr8:48818008..48822134-chr8:48871841..48874132,4	K562	blood:

Variant related genes	Relation type
ENSG00000104738	Chromatin interaction
ENSG00000253729	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10091017	0.85[EUR][1000 genomes]
rs10097783	0.85[EUR][1000 genomes]
rs10106778	0.90[EUR][1000 genomes]
rs10481294	0.90[EUR][1000 genomes]
rs10958438	0.80[EUR][1000 genomes]
rs11986191	0.80[EUR][1000 genomes]
rs12156246	0.92[EUR][1000 genomes]
rs12334811	0.90[EUR][1000 genomes]
rs12679087	1.00[AFR][1000 genomes]
rs13251871	0.92[EUR][1000 genomes]
rs1551655	0.85[EUR][1000 genomes]
rs17334535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1894311	0.85[EUR][1000 genomes]
rs28578331	0.84[EUR][1000 genomes]
rs28641816	0.80[EUR][1000 genomes]
rs4618724	0.90[EUR][1000 genomes]
rs4873266	0.80[EUR][1000 genomes]
rs4873770	0.95[EUR][1000 genomes]
rs4873771	0.87[EUR][1000 genomes]
rs4873773	0.84[EUR][1000 genomes]
rs6993292	0.80[EUR][1000 genomes]
rs72633917	1.00[AFR][1000 genomes]
rs72633925	0.85[AMR][1000 genomes]
rs72633927	0.85[AMR][1000 genomes]
rs72646396	1.00[AFR][1000 genomes]
rs72647908	0.92[EUR][1000 genomes]
rs72647909	0.92[EUR][1000 genomes]
rs72647913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72647916	0.97[EUR][1000 genomes]
rs72647918	0.97[EUR][1000 genomes]
rs72647922	0.90[EUR][1000 genomes]
rs7824066	0.84[EUR][1000 genomes]
rs8178016	0.97[EUR][1000 genomes]
rs8178079	0.85[EUR][1000 genomes]
rs8178095	0.92[EUR][1000 genomes]
rs8178097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8178158	0.82[EUR][1000 genomes]
rs8178169	0.84[EUR][1000 genomes]
rs8178238	1.00[AFR][1000 genomes]
rs9657054	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1021389	chr8:48700970-48880931	Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv539599	chr8:48700970-48880931	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv931032	chr8:48744329-49091359	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2758156	chr8:48788293-49008014	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	esv2759611	chr8:48788293-49008014	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv427820	chr8:48788293-49008014	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv831309	chr8:48815290-48977856	Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48684400-48861600	Strong transcription	Dnd41	blood
2	chr8:48726400-48870400	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr8:48730000-48871600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:48739600-48822200	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr8:48739600-48870600	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:48739800-48870400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr8:48778600-48838200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:48779800-48822200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:48780000-48822800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:48782800-48832200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr8:48785200-48859000	Strong transcription	Fetal Muscle Trunk	muscle
12	chr8:48785400-48826800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:48785400-48833000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:48785800-48822200	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr8:48785800-48832000	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr8:48786400-48833000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:48793800-48822200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr8:48793800-48822600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:48793800-48832200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:48793800-48870400	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr8:48793800-48870800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr8:48798000-48825200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr8:48799200-48832000	Strong transcription	Primary B cells from cord blood	blood
24	chr8:48800600-48827000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:48800600-48836000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:48800600-48854000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:48803600-48821000	Strong transcription	Fetal Intestine Small	intestine
28	chr8:48803600-48838000	Strong transcription	Fetal Stomach	stomach
29	chr8:48809200-48821400	Strong transcription	HepG2	liver
30	chr8:48809400-48823600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr8:48811400-48821800	Weak transcription	Fetal Brain Male	brain
32	chr8:48814000-48853800	Strong transcription	A549	lung
33	chr8:48814800-48821600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:48815000-48822000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr8:48815000-48822200	Weak transcription	Gastric	stomach
36	chr8:48815000-48822800	Weak transcription	Psoas Muscle	Psoas
37	chr8:48815200-48821000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr8:48815200-48822200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr8:48815200-48823000	Weak transcription	Pancreas	Pancrea
40	chr8:48815400-48822800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr8:48815400-48832200	Strong transcription	Primary B cells from peripheral blood	blood
42	chr8:48815400-48851600	Weak transcription	Stomach Mucosa	stomach
43	chr8:48815600-48822000	Weak transcription	Right Ventricle	heart
44	chr8:48816000-48822400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr8:48816000-48823400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr8:48816000-48823800	Weak transcription	Fetal Kidney	kidney
47	chr8:48816200-48821600	Weak transcription	Aorta	Aorta
48	chr8:48816600-48823600	Weak transcription	Colon Smooth Muscle	Colon
49	chr8:48816800-48822200	Weak transcription	HSMMtube	muscle
50	chr8:48817000-48822000	Weak transcription	Fetal Heart	heart

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